Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle α-actin (ACTA1) gene
Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle α-actin (ACTA1) gene
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DOI：
10.1016/s0960-8966(00)00167-x
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发表时间：
2001-01-01
影响因子：
2.8
通讯作者：
Muntoni, F
中科院分区：
文献类型：
--
作者：
Jungbluth, H;Sewry, CA;Muntoni, F
线状肌病是一种临床和遗传上的异质性疾病。临床范围从产前或新生儿发病并早死的严重病例到仅进展缓慢的晚发病例。已知有三个基因导致线状肌病：位于染色体2q22上的星云蛋白(NEB)基因、位于染色体1q21上的慢速原肌球蛋白(TPM3)基因和位于染色体1q42上的骨骼肌α-肌动蛋白(ACTA1)基因。我们报告一位39岁的女性，患有轻微的线状肌病，我们对她进行了长达25年的追踪。她在7岁时出现轻微的轴向和近端肌肉无力的症状。整个过程基本上是静态的，但在36岁时，她陷入了危及生命的呼吸衰竭，目前正在接受夜间呼吸机治疗。在12岁、17岁和39岁的肌肉活组织检查中发现了典型的线状杆状，特别是在1型纤维中。在第二次和第三次活检中出现氧化染色不均匀的区域。在电子显微镜上证实了棒状和核样区域的存在。免疫细胞化学显示肌动蛋白表达无明显变化。在骨骼肌α-肌动蛋白基因(A CTA I)中发现了一个显性错义突变。该病例说明了线状肌病的临床和遗传异质性，以及由骨骼肌α-肌动蛋白(ACTA1)基因突变引起的多种严重程度的一种表型，此外，它还显示了由于同一基因突变而可能发生在先天性肌病中的各种病理特征。(C)2001 Elsevier Science B.V.保留所有权利。
Nemaline myopathy is a clinically and genetically heterogeneous condition. The clinical spectrum ranges from severe cases with antenatal or neonatal onset and early death to late onset cases with only slow progression. Three genes are known to cause nemaline myopathy: the genes for nebulin (NEB) on chromosome 2q22, slow cr-tropomyosin (TPM3) on chromosome 1q21 and skeletal muscle alpha -actin (ACTA1) on chromosome 1q42. We present a 39-year-old lady with a mild form of nemaline myopathy, whom we have followed over a period of 25 years. She presented at the age of 7 years with symptoms of mild axial and proximal muscle weakness. The overall course was essentially static, but at 36 years, she went into life-threatening respiratory failure, for which she is currently treated with night-time ventilation. Muscle biopsies at 12, 17 and 39 years of age showed typical nemaline rods, particularly in type 1 fibres. Areas with unevenness of oxidative stain were present in the second and third biopsies. The presence of rods and core-like areas was confirmed on electron microscopy. There was no detectable alteration in actin expression immunocytochemically. A dominant mis sense mutation in the skeletal muscle alpha -actin gene (A CTA I) was found. This case illustrates the clinical and genetic heterogeneity of nemaline myopathy, and one phenotype of the wide spectrum of severity caused by mutations in the skeletal muscle alpha -actin (ACTA1) gene, In addition, it shows the diversity of pathological features that can occur in congenital myopathies due to mutations in the same gene. (C) 2001 Elsevier Science B.V. All rights reserved.